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Kindler syndrome in mice and men.
[kindler syndrome]
Kindler
syndrome
(
KS
)
in
humans
is
a
severe
skin
blistering
disease
associated
with
inflammation
and
increased
risk
of
epidermal
squamous
cell
carcinoma
(
SCC
)
.
This
disease
is
known
to
be
caused
by
loss
-of-function
mutations
in
Kindlin-
1
,
a
focal
adhesion
β-integrin
binding
protein
.
Thus
far
,
it
has
been
unclear
what
specific
signaling
events
occur
in
KS
keratinocytes
to
promote
tumorigenesis
,
especially
since
loss
of
β-integrins
and
focal
adhesion
complexes
has
been
previously
shown
to
prevent
or
delay
tumor
formation
.
In
the
April
issue
of
Nature
Medicine
,
Rognoni
and
colleagues
generate
a
transgenic
mouse
lacking
Kindlin-
1
in
the
epidermis
to
model
the
key
features
of
KS
,
and
show
that
Kindlin-
1
regulates
Wnt
and
TGF
β
signaling
independent
of
β-integrins
.
These
β
1
-
integrin-independent
functions
of
Kindlin-
1
may
contribute
to
the
increased
SCC
risk
in
KS
patients
.